Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498437014 | Symphalangism with multiple anomalies of hands and feet | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498438016 | Symphalangism with multiple anomalies of hands and feet syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498439012 | Learman syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3498440014 | Symphalangism with multiple anomalies of hands and feet syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5403659019 | Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403660012 | Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterised by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Symphalangism with multiple anomalies of hands and feet syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Symphalangism with multiple anomalies of hands and feet syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Symphalangism with multiple anomalies of hands and feet syndrome | Is a | Symphalangism | true | Inferred relationship | Some | ||
| Symphalangism with multiple anomalies of hands and feet syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Symphalangism with multiple anomalies of hands and feet syndrome | Associated morphology | Congenital ankylosis | false | Inferred relationship | Some | 1 | |
| Symphalangism with multiple anomalies of hands and feet syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Symphalangism with multiple anomalies of hands and feet syndrome | Finding site | Interphalangeal joint structure (body structure) | true | Inferred relationship | Some | 1 | |
| Symphalangism with multiple anomalies of hands and feet syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Symphalangism with multiple anomalies of hands and feet syndrome | Associated morphology | Ankylosis | true | Inferred relationship | Some | 1 | |
| Symphalangism with multiple anomalies of hands and feet syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR